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rs966365

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs966365(C;C)
Make rs966365(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position236394471
GeneEDARADD
is asnp
is mentioned by
dbSNPrs966365
ebirs966365
HLIrs966365
Exacrs966365
Varsomers966365
Maprs966365
PheGenIrs966365
hapmaprs966365
1000 genomesrs966365
hgdprs966365
ensemblrs966365
gopubmedrs966365
geneviewrs966365
scholarrs966365
googlers966365
pharmgkbrs966365
gwascentralrs966365
openSNPrs966365
23andMers966365
23andMe allrs966365
SNP Nexus

SNPshotrs966365
SNPdbers966365
MSV3drs966365
GWAS Ctlgrs966365
GMAF0.2323
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ENO1P
allele A
frequency 0.167
sift
HuRef 1103675371408
Disease Association Defects in EDARADD are a cause of autosomal recessive hypohidrotic ectodermal dysplasia (HED) (MIM:224900); also known as anhidrotic ectodermal dysplasia (EDA). HED is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.



GET Evidence
EDARADD-M9I
aa_change Met9Ile
aa_change_short M9I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.74103
summary